Susceptibility to invasive bacterial infections [8 genes]

Susceptibility to invasive bacterial infections is a PID characterized by defects in genes involved in bacterial sensing and anti-bacterial effector pathways, including the Toll and Toll-IL-1R pathways of cytokine and interferon (IFN) induction. These pathways are important for innate recognition of pyogenic and gram-negative bacteria.

  • Rare
  • Few families described

  • Diagnosis and genetic counseling
  • Ig replacement (IVIG)
  • Prophylactic antibiotics

Identifying a genetic defect responsible for the disease would allow a precise molecular diagnosis to be issued and make it possible to provide genetic counseling to the patient and their family members. In some cases, detecting a genetic variant can help explore specific treatment options.

  • Pyogenic infections
  • Meningitis, arthritis, sepsis
  • No fever
  • Resistant to other infections
  • Onset: childhood

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Susceptibility to invasive bacterial infections

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Consentimiento*
Technique: NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-202110270

Updated (dd/mm/yy): 01/07/2025

Susceptibility to invasive bacterial infections: View panel
  • FCGR2A
  • HMOX1
  • IRAK1
  • IRAK4
  • LIG1
  • MYD88
  • RPSA
  • TIRAP

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

References

  1. Casanova J-L, Abel L, Quintana-Murci L. Human TLRs and IL-1Rs in Host Defense: Natural Insights from Evolutionary, Epidemiological, and Clinical Genetics. Annu Rev Immunol. 2011;29(1):447-491. doi:10.1146/annurev-immunol-030409-101335
  2. IUIS Scientific Committee. Primary Immunodeficiency Diseases. Vol 118. (Rezaei N, Aghamohammadi A, Notarangelo LD, eds.). Berlin, Heidelberg: Springer Berlin Heidelberg; 2017. doi:10.1007/978-3-662-52909-6
  3. Rezaei N, Aghamohammadi A, Notarangelo LD, eds. Primary Immunodeficiency Diseases. Berlin, Heidelberg: Springer Berlin Heidelberg; 2017. doi:10.1007/978-3-662-52909-6

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